JP6092891B2 - ゲノムの異常の有無を決定する方法及び判断するシステム - Google Patents

ゲノムの異常の有無を決定する方法及び判断するシステム Download PDF

Info

Publication number
JP6092891B2
JP6092891B2 JP2014546269A JP2014546269A JP6092891B2 JP 6092891 B2 JP6092891 B2 JP 6092891B2 JP 2014546269 A JP2014546269 A JP 2014546269A JP 2014546269 A JP2014546269 A JP 2014546269A JP 6092891 B2 JP6092891 B2 JP 6092891B2
Authority
JP
Japan
Prior art keywords
chromosome
red blood
sequence
nucleated red
determining
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Active
Application number
JP2014546269A
Other languages
English (en)
Japanese (ja)
Other versions
JP2015501646A (ja
JP2015501646A5 (enExample
Inventor
詠 邱
詠 邱
立夫 劉
立夫 劉
慧 蒋
慧 蒋
芳 陳
芳 陳
春雷 張
春雷 張
建 汪
建 汪
俊 王
俊 王
煥明 楊
煥明 楊
秀清 張
秀清 張
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
BGI Genomics Co Ltd
Original Assignee
BGI Diagnosis Co Ltd
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by BGI Diagnosis Co Ltd filed Critical BGI Diagnosis Co Ltd
Publication of JP2015501646A publication Critical patent/JP2015501646A/ja
Publication of JP2015501646A5 publication Critical patent/JP2015501646A5/ja
Application granted granted Critical
Publication of JP6092891B2 publication Critical patent/JP6092891B2/ja
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869—Methods for sequencing
    • C12Q1/6874—Methods for sequencing involving nucleic acid arrays, e.g. sequencing by hybridisation
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869—Methods for sequencing
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Analytical Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biochemistry (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Theoretical Computer Science (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Pathology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
JP2014546269A 2011-12-17 2011-12-17 ゲノムの異常の有無を決定する方法及び判断するシステム Active JP6092891B2 (ja)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
PCT/CN2011/084165 WO2013086744A1 (zh) 2011-12-17 2011-12-17 确定基因组是否存在异常的方法及系统

Publications (3)

Publication Number Publication Date
JP2015501646A JP2015501646A (ja) 2015-01-19
JP2015501646A5 JP2015501646A5 (enExample) 2015-07-02
JP6092891B2 true JP6092891B2 (ja) 2017-03-15

Family

ID=48611840

Family Applications (1)

Application Number Title Priority Date Filing Date
JP2014546269A Active JP6092891B2 (ja) 2011-12-17 2011-12-17 ゲノムの異常の有無を決定する方法及び判断するシステム

Country Status (7)

Country Link
US (1) US20140336075A1 (enExample)
EP (1) EP2792751B1 (enExample)
JP (1) JP6092891B2 (enExample)
CN (1) CN103987856B (enExample)
ES (1) ES2699743T3 (enExample)
RU (1) RU2599419C2 (enExample)
WO (1) WO2013086744A1 (enExample)

Families Citing this family (15)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2016042830A1 (ja) * 2014-09-16 2016-03-24 富士フイルム株式会社 胎児染色体の解析方法
CN107075582A (zh) * 2014-09-29 2017-08-18 富士胶片株式会社 胎儿的染色体非整倍性的非侵入性判别方法及判别系统
JP2016067268A (ja) * 2014-09-29 2016-05-09 富士フイルム株式会社 胎児の染色体異数性の非侵襲的判別方法
US10301660B2 (en) 2015-03-30 2019-05-28 Takara Bio Usa, Inc. Methods and compositions for repair of DNA ends by multiple enzymatic activities
US10167502B2 (en) 2015-04-03 2019-01-01 Fluxion Biosciences, Inc. Molecular characterization of single cells and cell populations for non-invasive diagnostics
CN104894268B (zh) * 2015-06-05 2018-02-09 上海美吉生物医药科技有限公司 定量样本中源自细胞凋亡的dna浓度的方法及其应用
CN105019034A (zh) * 2015-07-11 2015-11-04 浙江大学 高通量转录组文库构建方法
CN108073790B (zh) * 2016-11-10 2022-03-01 安诺优达基因科技(北京)有限公司 一种染色体变异检测装置
WO2018148903A1 (zh) * 2017-02-16 2018-08-23 上海亿康医学检验所有限公司 泌尿系统肿瘤的辅助诊断方法
CN108660197A (zh) * 2017-04-01 2018-10-16 深圳华大基因科技服务有限公司 一种二代序列基因组重叠群的组装方法和系统
CN107217308A (zh) * 2017-06-21 2017-09-29 北京贝瑞和康生物技术股份有限公司 一种用于检测染色体拷贝数变异的测序文库构建方法和试剂盒
CN109402247B (zh) * 2018-11-06 2020-04-07 苏州首度基因科技有限责任公司 一种基于dna变异计数的胎儿染色体检测系统
DE102020116178A1 (de) * 2020-06-18 2021-12-23 Analytik Jena Gmbh Verfahren zum Erkennen einer Amplifikationsphase in einer Amplifikation
CN112652359B (zh) * 2020-12-30 2024-05-28 安诺优达基因科技(北京)有限公司 染色体异常检测装置

Family Cites Families (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2200294A1 (en) * 1994-09-20 1996-03-28 Jurgen Busch Enrichment of fetal cells from maternal blood
US20050277147A1 (en) * 2004-06-11 2005-12-15 Ameet Patki Identifying chromosomal abnormalities in cells obtained from follicular fluid
JP2009511001A (ja) * 2005-09-15 2009-03-19 アルテミス ヘルス，インク． 細胞及びその他の粒子を磁気濃縮するためのデバイス並びに方法
EP3424598B1 (en) * 2006-06-14 2022-06-08 Verinata Health, Inc. Rare cell analysis using sample splitting and dna tags
EP2589668A1 (en) * 2006-06-14 2013-05-08 Verinata Health, Inc Rare cell analysis using sample splitting and DNA tags
US9328378B2 (en) * 2006-07-31 2016-05-03 Illumina Cambridge Limited Method of library preparation avoiding the formation of adaptor dimers
WO2010033578A2 (en) * 2008-09-20 2010-03-25 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
EP2379746B1 (en) * 2008-12-22 2017-03-08 Celula Inc. Methods and genotyping panels for detecting alleles, genomes, and transcriptomes
EP2526415B1 (en) * 2010-01-19 2017-05-03 Verinata Health, Inc Partition defined detection methods

Also Published As

Publication number Publication date
EP2792751B1 (en) 2018-09-05
CN103987856A (zh) 2014-08-13
EP2792751A4 (en) 2015-07-29
RU2599419C2 (ru) 2016-10-10
WO2013086744A1 (zh) 2013-06-20
HK1196857A1 (zh) 2014-12-24
EP2792751A1 (en) 2014-10-22
US20140336075A1 (en) 2014-11-13
ES2699743T3 (es) 2019-02-12
JP2015501646A (ja) 2015-01-19
RU2014129321A (ru) 2016-02-10
CN103987856B (zh) 2016-08-24

Similar Documents

Publication Publication Date Title
JP6092891B2 (ja) ゲノムの異常の有無を決定する方法及び判断するシステム
JP6039034B2 (ja) 非侵襲的出生前診断に有用な母体試料由来の胎児核酸のメチル化に基づく富化のためのプロセスおよび組成物
JP2021003138A (ja) 非侵襲性の出生前診断のために有用な、母体サンプル由来の胎児核酸のメチル化に基づく濃縮のためのプロセスおよび組成物
US9784742B2 (en) Means and methods for non-invasive diagnosis of chromosomal aneuploidy
JP5938484B2 (ja) ゲノムのコピー数変異の有無を判断する方法、システム及びコンピューター読み取り可能な記憶媒体
JP6161607B2 (ja) サンプルにおける異なる異数性の有無を決定する方法
JP5964432B2 (ja) 単細胞染色体の非整倍数性を確定する方法及びシステム
JP2015534807A (ja) 胎児の染色体異数性を検出するための非侵襲的方法
Hahn et al. Determination of fetal chromosome aberrations from fetal DNA in maternal blood: has the challenge finally been met?
EP4599082A1 (en) Non-invasive methods of assessing transplant rejection in pregnant transplant recipients
US20190309345A1 (en) Clinical application of cell free dna technologies to non-invasive prenatal diagnosis and other liquid biopsies
HK1196857B (en) Method and system for determining whether genome is abnormal

Legal Events

Date Code Title Description
A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20150901

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20151130

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20151228

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20160201

A02 Decision of refusal

Free format text: JAPANESE INTERMEDIATE CODE: A02

Effective date: 20160705

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20161027

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20161110

A911 Transfer to examiner for re-examination before appeal (zenchi)

Free format text: JAPANESE INTERMEDIATE CODE: A911

Effective date: 20161205

TRDD Decision of grant or rejection written
A01 Written decision to grant a patent or to grant a registration (utility model)

Free format text: JAPANESE INTERMEDIATE CODE: A01

Effective date: 20170207

A61 First payment of annual fees (during grant procedure)

Free format text: JAPANESE INTERMEDIATE CODE: A61

Effective date: 20170209

R150 Certificate of patent or registration of utility model

Ref document number: 6092891

Country of ref document: JP

Free format text: JAPANESE INTERMEDIATE CODE: R150

S531 Written request for registration of change of domicile

Free format text: JAPANESE INTERMEDIATE CODE: R313531

S533 Written request for registration of change of name

Free format text: JAPANESE INTERMEDIATE CODE: R313533

R350 Written notification of registration of transfer

Free format text: JAPANESE INTERMEDIATE CODE: R350

R250 Receipt of annual fees

Free format text: JAPANESE INTERMEDIATE CODE: R250

R250 Receipt of annual fees

Free format text: JAPANESE INTERMEDIATE CODE: R250

R250 Receipt of annual fees

Free format text: JAPANESE INTERMEDIATE CODE: R250

R250 Receipt of annual fees

Free format text: JAPANESE INTERMEDIATE CODE: R250

R250 Receipt of annual fees

Free format text: JAPANESE INTERMEDIATE CODE: R250

R250 Receipt of annual fees

Free format text: JAPANESE INTERMEDIATE CODE: R250